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2019-09-01

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cc by (c) Pertesi et al., 2019
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/171340

Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma

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https://doi.org/10.1038/s41375-019-0452-6

Resum

Multiple myeloma (MM) is the third most common hematological malignancy, after Non-Hodgkin Lymphoma and Leukemia. MM is generally preceded by Monoclonal Gammopathy of Undetermined Significance (MGUS) [1], and epidemiological studies have identified older age, male gender, family history, and MGUS as risk factors for developing MM [2]. The somatic mutational landscape of sporadic MM has been increasingly investigated, aiming to identify recurrent genetic events involved in myelomagenesis. Whole exome and whole genome sequencing studies have shown that MM is a genetically heterogeneous disease that evolves through accumulation of both clonal and subclonal driver mutations [3] and identified recurrently somatically mutated genes, including KRAS, NRAS, FAM46C, TP53, DIS3, BRAF, TRAF3, CYLD, RB1 and PRDM1 [3,4,5].

Matèries

Mieloma múltiple, Genètica

Matèries (anglès)

Multiple myeloma, Genetics

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

PERTESI, Maroulio, VALLÉE, Maxime, WEI, Xiaomu, REVUELTA, Maria v., GALIA, Perrine, DEMANGEL, Delphine, OLIVER, Javier, FOLL, Matthieu, CHEN, Siwei, PERRIAL, Emeline, GARDERET, Laurent, CORRE, Jill, LELEU, Xavier, BOYLE, Eileen m., DECAUX, Olivier, RODON, Philippe, KOLB, Brigitte, SLAMA, Borhane, MINEUR, Philippe, VOOG, Eric, BRIS, Catherine le, FONTAN, Jean, MAIGRE, Michel, BEAUMONT, Marie, AZAIS, Isabelle, SOBOL, Hagay, VIGNON, Marguerite, ROYER, Bruno, PERROT, Aurore, FUZIBET, Jean-gabriel, DORVAUX, Véronique, ANGLARET, Bruno, CONY-MAKHOUL, Pascale, BERTHOU, Christian, DESQUESNES, Florence, PEGOURIE, Brigitte, LEYVRAZ, Serge, MOSSER, Laurent, FRENKIEL, Nicole, AUGEUL-MEUNIER, Karine, LEDUC, Isabelle, LEYRONNAS, Cécile, VOILLAT, Laurent, CASASSUS, Philippe, MATHIOT, Claire, CHERON, Nathalie, PAUBELLE, Etienne, MOREAU, Philippe, BIGNON, Yves-jean, JOLY, Bertrand, BOURQUARD, Pascal, CAILLOT, Denis, NAMAN, Hervé, RIGAUDEAU, Sophie, MARIT, Gérald, MACRO, Margaret, LAMBRECHT, Isabelle, CLIQUENNOIS, Manuel, VICENT, Laure, HELIAS, Philippe, AVET-LOISEAU, Hervé, MORENO AGUADO, Víctor, REIS, Rui manuel, VARKONYI, Judit, KRUSZEWSKI, Marcin, VANGSTED, Annette juul, JURCZYSZYN, Artur, ZAUCHA, Jan maciej, SAINZ, Juan, KRAWCZYK-KULIS, Malgorzata, WĄTEK, Marzena, PELOSINI, Matteo, ISKIERKA-JAŻDŻEWSKA, Elzbieta, GRZĄŚKO, Norbert, MARTÍNEZ LÓPEZ, Joaquin, JEREZ, Andrés, CAMPA, Daniele, BUDA, Gabriele, LESUEUR, Fabienne, DUDZIŃSKI, Marek, GARCÍA SANZ, Ramón, NAGLER, Arnon, RYMKO, Marcin, JAMROZIAK, Krzysztof, BUTRYM, Aleksandra, CANZIAN, Federico, OBAZEE, Ofure, NILSSON, Björn, KLEIN, Robert j., LIPKIN, Steven m., MCKAY, James d., DUMONTET, Charles. Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma. _Leukemia_. 2019. Vol. 33, núm. 9, pàgs. 2324-2330. [consulta: 24 de gener de 2026]. ISSN: 0887-6924. [Disponible a: https://hdl.handle.net/2445/171340]

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